The Hb H Disease Genotypes in Southern China. (February 2014)

• Record Type: Journal Article
• Authors: Fang, Jianpei; Chen, Luming; Zeng, Ruiping; Tian, Qiuhong; Jiang, Weiying; Li, Hongyi; Chen, Zheng; Du, Chuanshu; Chen, Suqin
• Is Part Of: Hemoglobin. Volume 38:Number 1(2014)
• Page Start: 76
• Page End: 78
• Publication Date: 2014-02
• Subjects: Hemoglobinopathy -- Periodicals; Hemoglobin -- Periodicals; Hematology -- Periodicals; Thalassemia -- Periodicals; Blood -- Diseases -- Periodicals; 612.1111
• DOI: 10.3109/03630269.2013.855936
• Languages: English
• ISSNs: 0363-0269

Abstract

<abstract> <title>Abstract</title> <p>We report the genetic data of 435 patients with Hb H (β4) disease who presented at our center between 2005 and 2012. Our results showed that all patients had the Southeast Asian deletion (– –^SEA) on one allele. The –α^3.7 (rightward) deletion was the most common on the other allele, followed by the –α^4.2 (leftward) deletion, Hb Constant Spring (Hb CS, α142, Term → Gln; <italic>HBA2</italic>: c.427T &gt; C) and Hb Quong Sze [Hb QS, α125(H8)Leu → Pro; <italic>HBA2</italic>: c.377T &gt; C] mutations. Two rare point mutations, α31(B12)Arg → Lys; <italic>HBA2</italic>: c.95G &gt; A and Hb Zurich Albisrieden [α59(E8)Gly → Arg; <italic>HBA1</italic>: c.178G &gt; C], were also identified. Four patients had a concomitant β-thalassemia (β-thal) heterozygosity. Our results reflect the genetic heterogeneity of Hb H disease and the interaction between Hb H disease and β-thal trait in Southern China.</p> </abstract>